{
  "url": "https://dantelabs.com/it/genes/ppm1b",
  "gene": {
    "slug": "ppm1b",
    "symbol": "PPM1B",
    "name": "protein phosphatase, Mg2+/Mn2+ dependent 1B",
    "hgnc": "HGNC:9276",
    "summary": null,
    "location": "2p21",
    "locusType": "gene with protein product",
    "aliases": [
      "PPC2BETAX",
      "PP2CB",
      "PP2CBETA"
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    "previousSymbols": [],
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    "entrezId": 5495,
    "omim": [
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    ],
    "uniprot": [
      "O75688"
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      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 44168875,
      "end": 44231472,
      "strand": "+",
      "ensemblTranscript": "ENST00000282412.9",
      "refseqTranscript": "NM_002706.6",
      "ensemblProtein": "ENSP00000282412.4",
      "refseqProtein": "NP_002697.1",
      "exons": [
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        }
      ],
      "cds": {
        "start": 44201200,
        "end": 44230718
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 44395108,
      "end": 44471523,
      "strand": "+"
    },
    "neighbourhood": {
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      "genes": [
        {
          "symbol": "PLEKHH2",
          "ensemblId": "ENSG00000152527",
          "biotype": "protein_coding",
          "start": 43637249,
          "end": 43767987,
          "strand": "+",
          "slug": "plekhh2"
        },
        {
          "symbol": "DYNC2LI1",
          "ensemblId": "ENSG00000138036",
          "biotype": "protein_coding",
          "start": 43774011,
          "end": 43828352,
          "strand": "+",
          "slug": "dync2li1"
        },
        {
          "symbol": "ABCG5",
          "ensemblId": "ENSG00000138075",
          "biotype": "protein_coding",
          "start": 43806213,
          "end": 43838865,
          "strand": "-",
          "slug": "abcg5"
        },
        {
          "symbol": "ABCG8",
          "ensemblId": "ENSG00000143921",
          "biotype": "protein_coding",
          "start": 43831942,
          "end": 43882988,
          "strand": "+",
          "slug": "abcg8"
        },
        {
          "symbol": "LRPPRC",
          "ensemblId": "ENSG00000138095",
          "biotype": "protein_coding",
          "start": 43886224,
          "end": 43996226,
          "strand": "-",
          "slug": "lrpprc"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285542",
          "biotype": "protein_coding",
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          "end": 44320310,
          "strand": "+"
        },
        {
          "symbol": "SLC3A1",
          "ensemblId": "ENSG00000138079",
          "biotype": "protein_coding",
          "start": 44275458,
          "end": 44322674,
          "strand": "+",
          "slug": "slc3a1"
        },
        {
          "symbol": "PREPL",
          "ensemblId": "ENSG00000138078",
          "biotype": "protein_coding",
          "start": 44316185,
          "end": 44361862,
          "strand": "-",
          "slug": "prepl"
        },
        {
          "symbol": "CAMKMT",
          "ensemblId": "ENSG00000143919",
          "biotype": "protein_coding",
          "start": 44361874,
          "end": 44776433,
          "strand": "+",
          "slug": "camkmt"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hypogonadism",
        "name": "Decreased activity of gonads",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypogonadism"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
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        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
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        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
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        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
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        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "cystinuria",
        "name": "High urine cystine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cystinuria"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "moderate-intellectual-disability",
        "name": "IQ between 34 and 49",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/moderate-intellectual-disability"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "decreased-fetal-movement",
        "name": "Less than 10 fetal movements in 12 hours",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-fetal-movement"
      },
      {
        "slug": "long-eyelashes",
        "name": "Long eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/long-eyelashes"
      },
      {
        "slug": "hypocalcemia",
        "name": "Low blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypocalcemia"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "mitochondrial-respiratory-chain-defects",
        "name": "Mitochondrial respiratory chain defects",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mitochondrial-respiratory-chain-defects"
      },
      {
        "slug": "hypernasal-speech",
        "name": "Nasal speech",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypernasal-speech"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}